ClinVar Miner

List of variants reported as likely pathogenic for Wiedemann-Steiner syndrome by Baylor Genetics

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	rs1057518074
NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr)	rs797045051
NM_001197104.2(KMT2A):c.7248del (p.Ile2417fs)

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